Pfeiffer syndrome is a rare autosomal dominant disorder characterized by coronal craniosynostosis, brachycephaly, mid-facial hypoplasia, and broad and deviated thumbs and great toes. Pfeiffer syndrome occurs in approximately 1:100,000 live births. Clinical manifestations and molecular genetic testing are important to confirm the diagnosis. Mutations of the fibroblast growth factor receptor 1 (F...

We identified a novel mutation in members of a family with signs of Crouzon syndrome and plagiocephaly. In affected members of the family an A-->G transition was found at position 886 in exon 5 of the fibroblast growth factor receptor 2 (FGFR2) gene. The base change results in the replacement of a lysine by glutamic acid in Ig-like loop III of FGFR2. The unusual finding of plagiocephaly in thes...

Continuous fossil discoveries and recent analysis of genomic data are revealing that anatomically modern traits evolved following a complex evolutionary path. Our current understanding human evolution considers the skull likely as mosaic correlated whose development is in turn integrated with other organs, such brain. However, we still know little about complexity genetic networks supervising t...

Prostat kanseri, erkeklerde kansere bağlı ölümlerin ikinci en sık nedenidir. Kemoterapötiklere direnç gelişmesi nedeniyle prostat kanserini tedavi etmek için yeni ilaçlara ihtiyaç vardır. Fenformin biguanid grubu antidiyabetik bir ilaçtır ve antikanserojen etkileri de Fibroblast büyüme faktörü reseptörü 2 (FGFR2), hücre proliferasyonunu farklılaşmasını destekleyen membran reseptörüdür. Çalışmam...

Abstract AIMS Glioblastoma (GBM) is the most common brain tumour in adults. The GBM microenvironment made up of heterogeneous cell populations, but how microenvironmental signalling pathways contribute to het- erogeneity and specific pathological features remains incompletely understood. Here, we compare expression fibroblast growth factor receptors (FGFRs) within core invasion front, specifica...

BACKGROUND The Women's Health Initiative dietary modification (DM) trial provided suggestive evidence of a benefit of a low-fat dietary pattern on breast cancer risk, with stronger evidence among women whose baseline diet was high in fat. Single nucleotide polymorphisms (SNP) in the FGFR2 gene relate strongly to breast cancer risk and could influence intervention effects. METHODS All 48,835 t...

P450 oxidoreductase (POR) is the obligatory flavoprotein intermediate that transfers electrons from reduced nicotinamide adenine dinucleotide phosphate (NADPH) to all microsomal cytochrome P450 enzymes. Although mouse Por gene ablation causes embryonic lethality, POR missense mutations cause disordered steroidogenesis, ambiguous genitalia, and Antley-Bixler syndrome (ABS), which has also been a...